Advancing Research and Treatment for Frontotemporal Lobar Degeneration Consortium (ARTFL)
Diseases Researched:
- Behavioral variant frontotemporal dementia (bvFTD)
- Corticobasal degeneration (CBD)
- Corticobasal syndrome (CBS)
- Frontotemporal dementia with amyotrophic lateral sclerosis (FTD/ALS)
- Frontotemporal lobar degeneration (FTLD)
- Nonfluent variant primary progressive aphasia (nfvPPA)
- Primary progressive aphasia (PPA)
- Progressive supranuclear palsy (PSP)
- Pure akinesia with gait freezing (PAGF)
- Semantic variant primary progressive aphasia (svPPA)
Angelman, Rett, & Prader-Willi Syndromes Consortium (ARPWSC)
Diseases Researched:
- Angelman syndrome
- Rett syndrome
- Prader-Willi syndrome
About the ARPWSC
Rett syndrome is now being studied by the Rett syndrome, MECP2 Duplications, & Rett-related Disorders Consortium.
For information on Prader-Willi syndrome, please see tab below.
For more information on Angelman syndrome, please contact:
Lynne M. Bird, MD
Office: 216-444-9017
Fax: 216-636-2498
Email: lbird@rchsd.org
URL: www.angelman.org and www.cureangelman.org
Autonomic Disorders Consortium (ADC)
Diseases Researched:
- Autoimmune autonomic ganglionopathy
- Baroreflex failure
- Congenital autonomic disorders
- Congenital norepinephrine deficiency due to CYB561 mutations
- Dopamine beta hydroxylase deficiency
- Familial autonomic ganglionopathy
- Familial dysautonomia
- Lewy body disease
- Multiple system atrophy
- Norepinephrine transporter deficiency
- Parkinson's disease with autonomic failure
- Pure autonomic failure
- Takotsubo syndrome
Bone Marrow Failure Consortium (BMFC)
Diseases Researched:
- Aplastic anemia
- Myelodysplastic syndromes
- Paroxysmal nocturnal hemoglobinuria (PNH)
- Large granular lymphocyte (LGL) leukemia
- Single lineage Ctopenias:
- Pure red cell aplasia
- Amegakaryocytic thrombocytopenic purpura
- Autoimmune neutropenia
For more information, please contact:
John Pellecchia, MS
Administrator
Department of Translational Hematology and Oncology Research
Taussig Cancer Institute
Cleveland Clinic
9500 Euclid Avenue/Desk R40
Cleveland, OH44195
Office: 216-444-9017
Fax: 216- 636-2498
Email: pellecj@ccf.org
For Patient Advocacy, Education & Referral Contact:
Leigh Clark
Patient Educator
Aplastic Anemia & MDS International Foundation, Inc.
Office: 800-747-2820
Fax:410-867-4560
Email: clark@aamds.org
Cholestatic Liver Disease Consortium (CLiC is Now ChiLDREN)
About ChiLDREN:
The Cholestatic Liver Disease Consortium (CLiC) is now part of ChiLDREN, the Childhood Liver Disease Research and Education Network. The new and expanded network combines CLiC and the Biliary Atresia Research Consortium (BARC), as well as new studies on cystic fibrosis liver disease. This consolidation seeks to facilitate the discovery of new diagnostics, etiologic, and treatment options for children with rare liver diseases, and those who undergo liver transplantation, and to train the next generation of investigators in rare pediatric liver diseases.
Diseases Researched:
- Alagille syndrome
- Alpha-1-antitrypsindeficiency
- Bile acid synthesis and metabolism defects
- Biliary atresia
- Cystic fibrosis liver disease
- Idiopathic neonatal hepatitis
- Mitochondrial hepatopathies
- Progressive familial intrahepatic cholestasis
For more information, please contact:
Joan M. Hines, MPH
Children's Hospital Colorado
Section of Pediatric Gastroenterology/Hepatology/Nutrition
13123 East 16th Avenue, B290
Aurora, Colorado 80045
Phone: 720-777-2598
Fax: 720-777-7351
Email: joan.hines@childrenscolorado.org
URL: www.childrennetwork.org
Chronic Graft Versus Host Disease Consortium (cGVHD)
Diseases Researched:
- Bronchiolitis obliterans
- Chronic graft versus host disease
- Cutaneous sclerosis
- Late acute graft versus host disease
For more information, please contact:
Kate Chilson
PO Box 19024
FHCRC
Seattle, WA 98109-1024
Office: 206-667-6069
Fax: 206-667-4336
Email: chronicGVHDstudies@fredhutch.org
CINCH: Clinical Investigation of Neurologic Channelopathies
Diseases Researched:
- Andersen-Tawil syndrome
- Episodic ataxias
- Non-dystrophic myotonic disorders
For more information, please contact:
Kimberly Hart, MA
Sr Information Analyst
FOR-DMD Contracts and Regulatory Manager
Room 2101
University of Rochester Medical Center
Neuro-Central Admin Research
Channelopathy and Muscle Study Projects
265 Crittenden Blvd
CU 420669
Rochester, NY 14642-0669
Office: 585-275-3767
Fax: 585-276-2056
Email: Kim_Hart@urmc.rochester.edu
Clinical Research Consortium for Spinocerebellar Ataxias
Diseases Researched:
- Spinocerebellar ataxia 1(SCA1)
- Spinocerebellar ataxia 2(SCA2)
- Spinocerebellar ataxia 3(SCA3/Machado Joseph disease/MJD)
- Spinocerebellar ataxia 6(SCA6)
Research Studies:
For more information on the clinical study: Natural History of and Genetic Modifiers in Spinocerebellar Ataxias, please visit ClinicalTrials.gov:
clinicaltrials.gov/ct2/show/NCT01060371
For more information, please contact:
Dr. Tetsuo Ashizawa, MD
ashizawa@ufl.edu
Dr. S.H. Subramony, MD
s.subramony@neurology.ufl.edu
University of Florida
100 S Newell Dr, L3-100
Gainesville, FL 32611
URL: For information regarding future ataxia research, please visit the National Ataxia Foundation (NAF) website www.ataxia.org
Prader-Willi Syndromes Consortium
Diseases Researched:
For more information, please contact:
Beverly P. Giordano, ARNP
Clinical Research Coordinator
Division of Pediatric Genetics
Department of Pediatrics
University of Florida
Office: 352-294-5280
Email: bgiordano@peds.ufl.edu
Rare Genetic Steroid Disorders Consortium (RGSDC)
Diseases Researched:
Disorders of Androgen Excess:
- 21-Hydroxylase deficiency
- 11b-Hydroxylase deficiency
Disorders of Androgen Synthesis or Action:
- Steroid 17a-hydroxylase deficiency
- Steroid 17b-hydroxysteroid dehydrogenase deficiency
- Androgen receptor defects
- 5a-reductase 2 deficiency
- Steroid 3b-hydroxysteroid dehydrogenase deficiency
Low-Renin Hypertension:
- Apparent Mineralocorticoid Excess
For more information, please contact:
Maria I. New, MD
Professor of Pediatrics
Pediatric Endocrinology
Director, Adrenal Steroid Disorders Program
The Mount Sinai School of Medicine
One Gustave L. Levy Place, Box 1198
New York, NY 10029-6574
Email: maria.new@mssm.edu
Rare Kidney Stone Consortium (RKSC)
Diseases Researched:
- CYP24A1 associated disease
- APRT deficiency (Dihydroxyadeninuria)
- Cystinuria
- Dent disease
- Lowe syndrome
- Primary hyperoxaluria
Rare Lung Diseases Consortium (RLDC)
Diseases Researched:
- Alpha-1 antitrypsin deficiency
- Autoimmune pulmonary alveolar proteinosis (aPAP)
- Birt-Hogg-Dube syndrome (BHD)
- Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH)
- GLA/lymphangiomatosis
- Hereditary pulmonary alveolar proteinosis (hPAP)
- Hermansky-Pudlak syndrome (HPS)
- Lymphangioleiomyomatosis (LAM)
- Pulmonary alveolar microlithiasis (PAM)
- Pulmonary langerhans cell histiocytosis (PLCH)
- Secondary pulmonary alveolar proteinosis (sPAP)
For more information, please contact:
Brenna Carey, MS, PhD
Program Manager
Division of Pulmonary Biology and Neonatology
3333 Burnet Avenue
Cincinnati, Ohio 45229
Phone: 513-636-8916
Fax: 513-636-3723
Email: Brenna.Carey@cchmc.org
Rare Thrombotic Diseases Consortium (RTDC)
Diseases Researched:
- Antiphospholipid antibody syndromes (APS)
- Heparin-induced thrombocytopenia (HIT)
- Paroxysmal nocturnal hemoglobinuria (PNH)
- Catastrophic antiphospholipid antibody syndrome (thrombotic storm)
- Thrombotic thrombocytopenic purpura (TTP)
For more information, please contact:
Sharon Hall
Research Analyst
Hemostasis and Thrombosis Research Center
Duke University Health System
P.O. Box 3422 DUMC
315 Trent Dr. Rm 273
Durham, NC 27710
Lab: 919-668-6329
Office: 919-681-9565
Fax: 919-681-6531
Email: Sharon.hall@duke.edu
URL: http://htc.medicine.duke.edu
Rett Syndrome, MECP2 Duplications, and Rett-related Disorders Consortium (RTT)
Diseases Researched:
- CDKL5 mutation
- FOXG1 mutation
- MECP2 Duplications
- MECP2 mutations not associated with Rett syndrome (non-RTT MECP2 mutations)
- Rett Syndrome — Typical/Classic
For more information, please contact:
Jane Lane, RN, BSN
Consortium Project Manager
University of Alabama at Birmingham
Phone: 205-934-1130
Fax: 205-975-6330
Email: jlane@uab.edu
Salivary Gland Carcinomas Consoritum (SGCC)
Diseases Researched:
- Mucoepidermoid carcinoma (MEC)
- Adenoid cystic carcinoma (ACC)
- Adenocarcinoma salivary duct carcinoma (AC)
For more information, please contact:
Adel El-Naggar MD, PhD
University of Texas MD Anderson Cancer Center
1515 Holcombe Boulevard, Unit 85, G1.3561A
Houston, TX 77030-4009
Fax: 713-792-5532
Email: anaggar@mdanderson.org
Sterol and Isoprenoid Diseases Consortium (STAIR)
Diseases Researched:
- Cerebrotendinous xanthomatosis hyperimmunoglobulinemia D with periodic fever syndrome
- CK syndrome
- CK syndrome & CHILD syndrome (congenital hemidysplasia w/ ichthyosiform erythroderma & limb defects)
- Dolichol metabolism disorder
- Hyperimmunoglobulinemia D with periodic fever syndrome
- Methylsterol oxidase deficiency
- Mevalonate kinase deficiency
- Mevalonic aciduria
- Peroxisome biogenesis disorder (Zellweger spectrum disorder)
- Sitosterolemia
- Sjögren-Larsson syndrome
- Smith-Lemli-Opitz syndrome
- Sterol-C4-methyl oxidase deficiency (SC4MOL gene defect)
- Succinic semialdehyde dehydrogenase deficiency
Studies
- 7004: Sjögren-Larsson Syndrome (SLS): A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers - Sjögren-Larsson syndrome
- 7007: Effects of Fish Oil, Colesevelam, and Combination Therapy on Sterol Metabolism in Sitosterolemia - Sitosterolemia
- 7010: Quality of Life Survey in Zellweger Spectrum Disorder - Peroxisome Biogenesis Disorder (Zellweger spectrum disorder)