Protocol Details
A Natural History Study of Patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)
This study is NOT currently recruiting participants.
Summary
Number |
18-HG-0064 |
Sponsoring Institute |
National Human Genome Research Institute (NHGRI) |
Recruitment Detail |
Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 1 Years
Max Age: 110 Years |
Referral Letter Required |
No |
Population Exclusion(s) |
None |
Keywords |
Generalized Arterial Calcification of Infancy;
Autosomal Recessive Hypophosphatemic Rickets;
Pseudoxanthoma Elasticum;
Idiopathic Infantile Arterial Calcification;
Natural History |
Recruitment Keyword(s) |
None |
Condition(s) |
Generalized Arterial Calcification of Infancy;
Autosomal Recessive Hypophosphatemic Rickets Type2 |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Human Genome Research Institute |
Background:
Generalized Arterial Calcification of Infancy (GACI) is a very rare disorder. It can be fatal before birth or by age 6 months. Anumber of people with GACI survive into adulthood. Those adults suffer from side effects of the disease, including rickets. It is unknown how common the disease Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is. It also has side effects. GACI and ARHR2 are usually caused by the mutations in the same gene. There are no approved treatments for the two diseases. Researchers want to study people with these diseases and their family members. This may help understand these rare and unique diseases better. The data could lead to new treatments for GACI and ARHR2.
Objectives:
To better understand the progression of GACI and ARHR2 and how genes might play a role in them.
Eligibility:
People with GACI or ARHR2, both living and deceased, and their parents and siblings.
Design:
Participants will allow researchers to access their medical records. They will give this consent by mail, email, or fax.
Data will be taken from the records. Participants names will not be used. Instead, they will be identified by a code.
Participants may give a blood sample.
If a participant withdraws from the study, their data and samples will be destroyed. However, the coded clinical data in the official medical record and data in databases will NOT be destroyed.
Eligibility
INCLUSION & EXCLUSION CRITERIA:
Based upon study purpose, participants enrolled in this protocol must:
1. Have genetic confirmation of one of the following:
a. GACI due to ENPP1 or ABCC6 mutations
b. ARHR2 due to ENPP1 mutations
c. PXE due to ABCC6 or ENPP1 mutations
AND/OR
Carry the clinical diagnosis of GACI, ARHR2 or PXE
2. Consent or, if applicable, assent to participate in the study
3. Have sufficient chart information to allow for the completion of at least one of the protocol s objectives.
Citations:
Albright RA, Stabach P, Cao W, Kavanagh D, Mullen I, Braddock AA, Covo MS, Tehan M, Yang G, Cheng Z, Bouchard K, Yu ZX, Thorn S, Wang X, Folta-Stogniew EJ, Negrete A, Sinusas AJ, Shiloach J, Zubal G, Madri JA, De La Cruz EM, Braddock DT. ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. Nat Commun. 2015 Dec 1;6:10006. doi: 10.1038/ncomms10006.
Ferreira C, Ziegler S, Gahl W. Generalized Arterial Calcification of Infancy. 2014 Nov 13. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from http://www.ncbi.nlm.nih.gov/books/NBK253403/
Rutsch F, B(SqrRoot)(Delta)yer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, N(SqrRoot) rnberg P, Terkeltaub R; GACI Study Group. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet. 2008 Dec;1(2):133-40. doi: 10.1161/CIRCGENETICS.108.797704.
Contacts:
Clinical Trials Number:
NCT03478839