Pompe Disease Registry Protocol

• Sponsor: Genzyme, a Sanofi Company (Industry)
• Overall Status: Recruiting
• CT.gov ID: NCT00231400
• Collaborator: (none)
• Enrollment: 2,000
• Locations: 275
• Anticipated Duration (Months): 352.5
• Patients Per Site: 7.3
• Patients Per Site Per Month: 0

Study Details

Study Description

Brief Summary

The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes.

The objectives of the Registry are:

• To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention.

• To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care.

• To characterize the Pompe disease population.

• To evaluate the long-term effectiveness of alglucosidase alfa.

Condition or Disease	Intervention/Treatment	Phase
Glycogen Storage Disease Type II; Pompe Disease

Detailed Description

Study Design Time Perspective: Retrospective and Prospective

Study Design

• Study Type: Observational [Patient Registry]
• Anticipated Enrollment: 2000 participants
• Observational Model: Cohort
• Time Perspective: Other
• Official Title: Pompe Disease Registry
• Actual Study Start Date: Sep 15, 2004
• Anticipated Primary Completion Date: Jan 31, 2034
• Anticipated Study Completion Date: Jan 31, 2034

Outcome Measures

Primary Outcome Measures

1. Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease [maximum 30 years]

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Inclusion Criteria:

All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations.

Exclusion Criteria:

There are no exclusion criteria in this Registry

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Investigational Site Number :840106	Birmingham	Alabama	United States	35233
2	Investigational Site Number :840003	Phoenix	Arizona	United States	85013
3	Investigational Site Number :840087	Phoenix	Arizona	United States	85013
4	Investigational Site Number :840015	Tucson	Arizona	United States	85724
5	Investigational Site Number :840109	Little Rock	Arkansas	United States	72202
6	Investigational Site Number :840113	Little Rock	Arkansas	United States	72205
7	Investigational Site Number :840068	Aurora	California	United States	80045
8	Investigational Site Number :840036	Irvine	California	United States
9	Investigational Site Number :840070	Loma Linda	California	United States	92354
10	Investigational Site Number :840108	Los Angeles	California	United States	90027
11	Investigational Site Number :840082	Los Angeles	California	United States	90033
12	Investigational Site Number :840029	Oakland	California	United States	94609
13	Investigational Site Number :840074	Orange	California	United States	92868
14	Investigational Site Number :840010	Sacramento	California	United States	95817
15	Investigational Site Number :840117	San Bernardino	California	United States	92408
16	Investigational Site Number :840007	San Diego	California	United States	92093
17	Investigational Site Number :840051	San Francisco	California	United States
18	Investigational Site Number :840021	Stanford	California	United States	94305
19	Investigational Site Number :840069	Aurora	Colorado	United States	80045
20	Investigational Site Number :840047	New Haven	Connecticut	United States	06520
21	Investigational Site Number :840067	Washington	District of Columbia	United States	20010
22	Investigational Site Number :840012	Gainesville	Florida	United States	32610
23	Investigational Site Number :840112	Jacksonville	Florida	United States	32216
24	Investigational Site Number :840006	Miami	Florida	United States	33136
25	Investigational Site Number :840096	Tampa	Florida	United States	33606
26	Investigational Site Number :840060	Decatur	Georgia	United States	30033
27	Investigational Site Number :840011	Chicago	Illinois	United States	60611
28	Investigational Site Number :840013	Chicago	Illinois	United States	60611
29	Investigational Site Number :840079	Chicago	Illinois	United States	60612
30	Investigational Site Number :840027	Indianapolis	Indiana	United States	46202
31	Investigational Site Number :840032	Iowa City	Iowa	United States	52242
32	Investigational Site Number :840020	Kansas City	Kansas	United States	66160
33	Investigational Site Number :840030	Louisville	Kentucky	United States	40202
34	Investigational Site Number :840120	New Orleans	Louisiana	United States	70121
35	Investigational Site Number :840064	Portland	Maine	United States	04102
36	Investigational Site Number :840044	Baltimore	Maryland	United States
37	Investigational Site Number :840062	Boston	Massachusetts	United States	02114
38	Investigational Site Number :840092	Boston	Massachusetts	United States	2115
39	Investigational Site Number :840002	Springfield	Massachusetts	United States	01199
40	Investigational Site Number :840107	Ann Arbor	Michigan	United States	48109
41	Investigational Site Number :840066	Detroit	Michigan	United States	48201
42	Investigational Site Number :840019	Grand Rapids	Michigan	United States	49503
43	Investigational Site Number :840050	Grand Rapids	Michigan	United States	49525
44	Investigational Site Number :840046	Minneapolis	Minnesota	United States	55404
45	Investigational Site Number :840114	Minneapolis	Minnesota	United States	55404
46	Investigational Site Number :840035	Minneapolis	Minnesota	United States	55455
47	Investigational Site Number :840076	Minneapolis	Minnesota	United States	55455
48	Investigational Site Number :840031	Columibia	Missouri	United States	65212
49	Investigational Site Number :840063	Kansas City	Missouri	United States	64108
50	Investigational Site Number :840100	Saint Louis	Missouri	United States	63110
51	Investigational Site Number :840084	Omaha	Nebraska	United States	68198
52	Investigational Site Number :840008	Las Vegas	Nevada	United States	89109
53	Investigational Site Number :840098	Camden	New Jersey	United States
54	Investigational Site Number :840101	Hackensack	New Jersey	United States	07601
55	Investigational Site Number :840099	Morristown	New Jersey	United States	07960
56	Investigational Site Number :840016	New Brunswick	New Jersey	United States	08901
57	Investigational Site Number :840057	Paterson	New Jersey	United States	07503
58	Investigational Site Number :840102	Manhasset	New York	United States	11030
59	Investigational Site Number :840040	New York	New York	United States	10016
60	Investigational Site Number :840005	New York	New York	United States	10029
61	Investigational Site Number :840110	New York	New York	United States	10029
62	Investigational Site Number :840105	Rochester	New York	United States	14642
63	Investigational Site Number :840052	Syracuse	New York	United States	13210
64	Investigational Site Number :840039	Valhalla	New York	United States	10595
65	Investigational Site Number :840065	Charlotte	North Carolina	United States	28232
66	Investigational Site Number :840037	Durham	North Carolina	United States	27710
67	Investigational Site Number :840041	Cincinnati	Ohio	United States
68	Investigational Site Number :840119	Cleveland	Ohio	United States	44106
69	Investigational Site Number :840048	Cleveland	Ohio	United States	44195
70	Investigational Site Number :840091	Columbus	Ohio	United States	43205-2664
71	Investigational Site Number :840094	Dublin	Ohio	United States	43017
72	Investigational Site Number :840080	Portland	Oregon	United States	97201
73	Investigational Site Number :840038	Portland	Oregon	United States	97239
74	Investigational Site Number :840095	Portland	Oregon	United States	97239
75	Investigational Site Number :840061	Hershey	Pennsylvania	United States	17033
76	Investigational Site Number :840089	Philadelphia	Pennsylvania	United States	19104
77	Investigational Site Number :840034	Philadelphia	Pennsylvania	United States
78	Investigational Site Number :840014	Pittsburgh	Pennsylvania	United States	15213
79	Investigational Site Number :840023	Pittsburgh	Pennsylvania	United States	15224
80	Investigational Site Number :840053	Providence	Rhode Island	United States	02903
81	Investigational Site Number :840055	Greenville	South Carolina	United States	29605
82	Investigational Site Number :840049	Nashville	Tennessee	United States	38232
83	Investigational Site Number :840058	Dallas	Texas	United States	75226
84	Investigational Site Number :840024	Fort Worth	Texas	United States	76104
85	Investigational Site Number :840043	Salt Lake City	Utah	United States	84132
86	Investigational Site Number :840078	Charlottesville	Virginia	United States	22908
87	Investigational Site Number :840025	Fairfax	Virginia	United States	22030
88	Investigational Site Number :840072	Norfolk	Virginia	United States	23507
89	Investigational Site Number :840028	Seattle	Washington	United States	98105
90	Investigational Site Number :840059	Seattle	Washington	United States	98195
91	Investigational Site Number :840115	Tacoma	Washington	United States	98415
92	Investigational Site Number :840054	Milwaukee	Wisconsin	United States	53226
93	Investigational Site Number :152218	Caba	Buenos Aires	Argentina	1424
94	Investigational Site Number :153194	Caba	Buenos Aires	Argentina	CPC1181ACH
95	Investigational Site Number :153032	Ciudad Autónoma de Buenos Aires	Buenos Aires	Argentina	1425
96	Investigational Site Number :036013	Westmead	New South Wales	Australia	2145
97	Investigational Site Number :151069	Westmead	New South Wales	Australia	2145
98	Investigational Site Number :152096	Brisbane	Queensland	Australia	4101
99	Investigational Site Number :154087	Herston	Queensland	Australia	4006
100	Investigational Site Number :151002	Adelaide	South Australia	Australia	5000
101	Investigational Site Number :036014	Murdoch	Western Australia	Australia	6150
102	Investigational Site Number :151015	Murdoch	Western Australia	Australia	6150
103	Investigational Site Number :150722	Antwerpen		Belgium	2020
104	Investigational Site Number :154298	Brugge		Belgium	8000
105	Investigational Site Number :150684	Bruxelles		Belgium	1070
106	Investigational Site Number :056010	Bruxelles		Belgium	BE-1200
107	Investigational Site Number :152072	Edegem		Belgium	2650
108	Investigational Site Number :152295	Gent		Belgium	9000
109	Investigational Site Number :153179	Gosselies		Belgium	6041
110	Investigational Site Number :151668	Leuven		Belgium	3000
111	Investigational Site Number :152126	Leuven		Belgium	3000
112	Investigational Site Number :076011	Fortaleza	Ceará	Brazil	60430-370
113	Investigational Site Number :076003	Cuiabá	Mato Grosso	Brazil	78025-000
114	Investigational Site Number :076008	Porto Alegre	Rio Grande Do Sul	Brazil	90035-003
115	Investigational Site Number :076009	Ribeirão Preto	São Paulo	Brazil	14048-900
116	Investigational Site Number :076001	Rio de Janeiro		Brazil	22250020
117	Investigational Site Number :076002	São Paulo		Brazil	04020-041
118	Investigational Site Number :076012	São Paulo		Brazil	04037002
119	Investigational Site Number :076004	São Paulo		Brazil	05403-000
120	Investigational Site Number :076007	São Paulo		Brazil	05403-000
121	Investigational Site Number :100001	Sofia		Bulgaria	1680
122	Investigational Site Number :124014	Calgary	Alberta	Canada	T3B6A8
123	Investigational Site Number :124002	Edmonton	Alberta	Canada	TG62B7
124	Investigational Site Number :124010	Vancouver	British Columbia	Canada	V5Z1M9
125	Investigational Site Number :124011	Vancouver	British Columbia	Canada	V6H3N1
126	Investigational Site Number :124019	Winnipeg	Manitoba	Canada	R3A1R9
127	Investigational Site Number :124022	Moncton	New Brunswick	Canada	E1C2Z3
128	Investigational Site Number :124007	Hamilton	Ontario	Canada	L8N3Z5
129	Investigational Site Number :124021	London	Ontario	Canada	N6A 5W9
130	Investigational Site Number :124006	Toronto	Ontario	Canada	M5G 1X8
131	Investigational Site Number :124004	Montreal	Quebec	Canada	H3A2B4
132	Investigational Site Number :124018	Montreal	Quebec	Canada	H4A3J1
133	Investigational Site Number :124001	Sherbrooke	Quebec	Canada	J1H5N4
134	Investigational Site Number :152002	Punta Arenas		Chile
135	Investigational Site Number :152001	Santiago		Chile
136	Investigational Site Number :152380	Beijing		China
137	Investigational Site Number :153202	Beijing		China
138	Investigational Site Number :153203	Beijing		China
139	Investigational Site Number :152379	Guangzhou		China	510000
140	Investigational Site Number :152381	Jinan		China
141	Investigational Site Number :152356	Shanghai		China	200092
142	Investigational Site Number :152382	Shanghai		China
143	Investigational Site Number :170001	Bogota		Colombia
144	Investigational Site Number :1910001	Zagreb		Croatia	10000
145	Investigational Site Number :1910002	Zagreb		Croatia	10000
146	Investigational Site Number :150809	Praha 2		Czechia	12808
147	Investigational Site Number :151229	København Ø		Denmark	2100
148	Investigational Site Number :250010	Bordeaux		France	33000
149	Investigational Site Number :250012	Brest		France	29200
150	Investigational Site Number :250003	BRON Cedex		France	69677
151	Investigational Site Number :250007	BRON Cedex		France	69677
152	Investigational Site Number :250009	Caen		France	14000
153	Investigational Site Number :250015	GRENOBLE cedex		France	38043
154	Investigational Site Number :250008	Lille Cedex		France	59037
155	Investigational Site Number :250002	Marseille Cedex 05		France	13385
156	Investigational Site Number :250017	NANCY Cedex		France	54035
157	Investigational Site Number :250019	NANTES Cedex 1		France	44035
158	Investigational Site Number :250005	Nice cedex 1		France	06001
159	Investigational Site Number :250011	NIMES Cedex 9		France	30029
160	Investigational Site Number :250001	PARIS Cedex 13		France	75013
161	Investigational Site Number :250004	Paris		France	75015
162	Investigational Site Number :250018	St Etienne		France	42055
163	Investigational Site Number :250016	Strasbourg Cedex 2		France	67098
164	Investigational Site Number :250014	Toulouse		France	31200
165	Investigational Site Number :250006	Tours		France	37044
166	Investigational Site Number :25013	Vannes		France	56000
167	Investigational Site Number :152041	Berlin		Germany	13125
168	Investigational Site Number :151686	Berlin		Germany	13353
169	Investigational Site Number :152293	Berlin		Germany	13353
170	Investigational Site Number :152234	Bochum		Germany	44789
171	Investigational Site Number :152200	Bonn		Germany	53105
172	Investigational Site Number :152108	Freiburg		Germany	79106
173	Investigational Site Number :154150	Gießen		Germany	35392
174	Investigational Site Number :152045	Halle (Saale)		Germany	06120
175	Investigational Site Number :154215	Hamburg		Germany	20354
176	Investigational Site Number :150031	Mainz		Germany	55131
177	Investigational Site Number :152075	München		Germany	80336
178	Investigational Site Number :152299	Münster		Germany	48149
179	Investigational Site Number :300001	Thessaloniki		Greece	54642
180	Investigational Site Number :152291	Debrecen		Hungary	4032
181	Investigational Site Number :154256	Nyíregyháza		Hungary	4400
182	Investigational Site Number :152123	Pécs		Hungary	7623
183	Investigational Site Number :154166	Székesfehérvár		Hungary	8000
184	Investigational Site Number :356003	Ahmedabad		India	380015
185	Investigational Site Number :356001	Kolkata		India	700017
186	Investigational Site Number :3560004	Secunderabad		India	500026
187	Investigational Site Number :356002	Vellore		India	632004
188	Investigational Site Number :360001	Jakarta		Indonesia
189	Investigational Site Number :3760002	Beer Sheva		Israel
190	Investigational Site Number :3760001	Haifa		Israel
191	Investigational Site Number :3760003	Tel Aviv		Israel
192	Investigational Site Number :380008	Brescia		Italy	25123
193	Investigational Site Number :380006	Cagliari		Italy	09126
194	Investigational Site Number :380014	Ferrara		Italy	44124
195	Investigational Site Number :380005	Firenze		Italy	50141
196	Investigational Site Number :380004	Genova		Italy	16147
197	Investigational Site Number :380013	Messina		Italy	98125
198	Investigational Site Number :380016	Milano		Italy	20122
199	Investigational Site Number :380007	Milano		Italy	20133
200	Investigational Site Number :380009	Monza		Italy
201	Investigational Site Number :380010	Napoli		Italy
202	Investigational Site Number :380019	Napoli		Italy
203	Investigational Site Number :380002	Padova		Italy	35128
204	Investigational Site Number :380011	Padova		Italy
205	Investigational Site Number :380003	Pavia		Italy	27100
206	Investigational Site Number :380015	Roma		Italy	00165
207	Investigational Site Number :380012	Roma		Italy
208	Investigational Site Number :380017	Torino		Italy	10126
209	Investigational Site Number :380001	Udine		Italy	33100
210	Investigational Site Number :392106	Sakyo-ku	Kyoto	Japan	606-8507
211	Investigational Site Number :392105	Ginowan	Okinawa	Japan	901-2214
212	Investigational Site Number :4000001	Amman		Jordan	261
213	Investigational Site Number :153178	Busan		Korea, Republic of
214	Investigational Site Number :153191	Daejeon		Korea, Republic of
215	Investigational Site Number :153225	Jeonnam		Korea, Republic of
216	Investigational Site Number :153180	Seoul		Korea, Republic of	03080
217	Investigational Site Number :153196	Seoul		Korea, Republic of	03080
218	Investigational Site Number :153192	Seoul		Korea, Republic of	04401
219	Investigational Site Number :151149	Seoul		Korea, Republic of	05505
220	Investigational Site Number :153176	Seoul		Korea, Republic of
221	Investigational Site Number :153212	Seoul		Korea, Republic of
222	Investigational Site Number :153222	Seoul		Korea, Republic of
223	Investigational Site Number :154148	Yangsan		Korea, Republic of	50612
224	Investigational Site Number :154225	Kuwait		Kuwait
225	Investigational Site Number :4220004	Beirut		Lebanon	11072210
226	Investigational Site Number :4220002	Hazmieh		Lebanon
227	Investigational Site Number :458001	Jalan Pahang		Malaysia	50586
228	Investigational Site Number :458002	Kuala Lumpur		Malaysia	59100
229	Investigational Site Number :152029	Rotterdam		Netherlands	3015GD
230	Investigational Site Number :154264	Karachi		Pakistan
231	Investigational Site Number :154266	Lahore		Pakistan
232	Investigational Site Number :608001	Manila		Philippines	1000
233	Investigational Site Number :150575	Warszawa		Poland	04-730
234	Investigational Site Number :620008	Coimbra		Portugal	3000-075
235	Investigational Site Number :620006	Lisboa		Portugal	1649-035
236	Investigational Site Number :154099	Bucuresti		Romania	022328
237	Investigational Site Number :643002	Moscow		Russian Federation	117218
238	Investigational Site Number :682004	Makkah		Saudi Arabia	21955
239	Investigational Site Number :682001	Qatif		Saudi Arabia
240	Investigational Site Number :6880001	Belgrade		Serbia	11000
241	Investigational Site Number :702001	Singapore		Singapore	229899
242	Investigational Site Number :703001	Bratislava		Slovakia	83340
243	Investigational Site Number :154093	Chiayi		Taiwan
244	Investigational Site Number :152152	Hualien		Taiwan
245	Investigational Site Number :152246	Kaohsiung Hsien,		Taiwan
246	Investigational Site Number :152244	Kaohsiung		Taiwan	807
247	Investigational Site Number :151534	New Taipei City		Taiwan	23142
248	Investigational Site Number :151500	Putz City, Chia-yi		Taiwan
249	Investigational Site Number :151179	Taichung City		Taiwan	404
250	Investigational Site Number :151181	Taichung		Taiwan	00407
251	Investigational Site Number :153248	Tainan		Taiwan	70403
252	Investigational Site Number :152153	Tainan		Taiwan
253	Investigational Site Number :151182	Taipei		Taiwan	100
254	Investigational Site Number :152321	Taipei		Taiwan	10449
255	Investigational Site Number :152226	Taipei		Taiwan
256	Investigational Site Number :153158	Tao Yuan County		Taiwan
257	Investigational Site Number :764002	Bangkok		Thailand	10400
258	Investigational Site Number :764003	Bangkok		Thailand	10400
259	Investigational Site Number :764004	Bangkok		Thailand	10700
260	Investigational Site Number :764001	Bangkok		Thailand
261	Investigational Site Number :764005	Khon Kaen		Thailand	40002
262	Investigational Site Number :TBC	Dubai		United Arab Emirates
263	Investigational Site Number :151340	Cambridge	Cambridgeshire	United Kingdom	CB50QQ
264	Investigational Site Number :152287	Birmingham		United Kingdom	B152TH
265	Investigational Site Number :154240	Birmingham		United Kingdom	B46NH
266	Investigational Site Number :152334	Cardiff		United Kingdom	CF44XN
267	Investigational Site Number :152156	Glasgow		United Kingdom	G514TF
268	Investigational Site Number :151123	London		United Kingdom	NW32QG
269	Investigational Site Number :151646	London		United Kingdom	WC1N3BG
270	Investigational Site Number :150303	London		United Kingdom	WC1N3JH
271	Investigational Site Number :150455	Manchester		United Kingdom	M86RB
272	Investigational Site Number :152087	Newcastle		United Kingdom	NE13BZ
273	Investigational Site Number :150964	Salford		United Kingdom	M6 8HD
274	Investigational Site Number :154212	Hanoi		Vietnam
275	Investigational Site Number :704002	Ho Chi Minh City		Vietnam	700000

Sponsors and Collaborators

• Genzyme, a Sanofi Company

Investigators

• Study Director: Study Director, Genzyme, a Sanofi Company

Study Documents (Full-Text)

None provided.

More Information

Publications

• Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, van der Ploeg A. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011 May;103(1):1-11. doi: 10.1016/j.ymgme.2011.02.004. Epub 2011 Feb 11. Erratum in: Mol Genet Metab. 2011 Nov;104(3):424.
• Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Mol Genet Metab. 2014 Sep-Oct;113(1-2):84-91. doi: 10.1016/j.ymgme.2014.07.014. Epub 2014 Jul 16.
• Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J; Pompe Registry Boards of Advisors. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013 Oct;161A(10):2431-43. doi: 10.1002/ajmg.a.36110. Epub 2013 Aug 30.

• Responsible Party: Genzyme, a Sanofi Company
• ClinicalTrials.gov Identifier: NCT00231400
• Other Study ID Numbers: DIREGC07005
• First Posted: Oct 4, 2005
• Last Update Posted: Jun 23, 2022
• Last Verified: Jun 22, 2022

• Keywords provided by Genzyme, a Sanofi Company: Glycogen Storage Disease Type II (GSD-II); GSD-II; Pompe Disease; Pompe Disease (late-onset); Acid Maltase Deficiency Disease; Glycogenosis II
• Additional relevant MeSH terms: Glycogen Storage Disease Type II; Glycogen Storage Disease; Disease

Study Results

No Results Posted as of Jun 23, 2022