Table 1.
Number and Characteristics of Rare Diseases in the RDCRN Contact Registry, by Consortium, and number of Registrants.
| Consortia Name / Disease Grouping | Year joined the RDCRN | # RDCRN diseases included in the Contact Registry | # of genetic | # pediatric disorders | # diseases with ≥ 3 active studies on ClinicalTrials.gov | Total Registrants as of December 31, 2011 |
|---|---|---|---|---|---|---|
| Angelman, Rett, & Prader-Willi Syndromes Consortium⋄ | 2003 | 3 | 3 | 3 | 3 | 1037 |
| Autonomic Rare Diseases Clinical Research Consortium | 2009 | 6 | 0 | 0 | 3 | 354 |
| Brain Vascular Malformation Consortium | 2009 | 3 | 3 | 3 | 0 | 33 |
| Chronic Graft Versus Host Disease Consortium⋄⋄ | 2009 | 4 | 0 | 4 | 4 | 0 |
| Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) | 2009 | 48 | 38 | 6 | 17 | 327 |
| Consortium for Clinical Investigation of Neurologic Channelopathies⋄ | 2003 | 3 | 2 | 2 | 0 | 297 |
| Genetic Disorders of Mucociliary Clearance Consortium⋄ | 2003 | 3 | 3 | 3 | 3 | 372 |
| Inherited Neuropathies Consortium | 2009 | 7 | 3 | 3 | 2 | 715 |
| Lysosomal Disease Network | 2009 | 47 | 40 | 40 | 29 | 16 |
| Molecular and Epidemiologic Characterization of Salivary Gland Carcinomas | 2009 | 3 | 0 | 2 | 3 | 5 |
| Nephrotic Syndrome Rare Disease CR Network | 2009 | 4 | 0 | 4 | 4 | 1091 |
| North American Mitochondrial Diseases Consortium | 2009 | 29 | 19 | 19 | 12 | 435 |
| Porphyria Rare Disease Clinical Research Consortium | 2009 | 8 | 1 | 5 | 0 | 636 |
| Primary Immune Deficiency Treatment Consortium | 2009 | 3 | 3 | 3 | 3 | 8 |
| Rare Kidney Stone Consortium | 2009 | 4 | 4 | 4 | 2 | 3 |
| Sterol and Isoprenoid Diseases Consortium | 2009 | 7 | 4 | 5 | 2 | 34 |
| Urea Cycle Disorders Consortium⋄ | 2003 | 8 | 8 | 8 | 3 | 347 |
| Vasculitis Clinical Research Consortium⋄ | 2003 | 11 | 2 | 2 | 9 | 3151 |
| Total | 201** | 133 | 116 | 99 | 8861 | |
*
Note: Only 18 of the 19 RDCRN consortia utilize the RDCRN Contact Registry.
**
The RDCRN Contact Registry includes more disorders (n=201) than the number of disorders (n=140) that are represented in RDCRN Consortia research studies and activities.
⋄
Represents consortium that were part of the first RDCRN funding cycle (2004). Other consortia joined RDCRN in 2009.
⋄⋄
The RDCRN Contact Registry was only made available to these patients in late 2011, a short time before this manuscript was submitted.