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XLH Timeline

Compiled By: Larry Winger, Ph.D., PGCE , Scott Schmitz & Colin Steeksma

Stone Age
A prehistoric skeleton with signs of familial rickets was discovered by Italian scientists.

1920

Vitamin D identified as the dietary or sunlight factor involved in rickets problems

1937

An inherited form of rickets identified which is not susceptible to Vitamin D supplementation in diet

1956

Hypophosphatemia identified as the important X-Linked component in Vitamin D Resistant Rickets in a study based on families in the Carolinas, USA.

1950-1960

High dose Vitamin D used as early therapy

1960-1969

Phosphate supplements tried in an attempt to normalize blood phosphate

1960-1969

Active D3 hormone used in some trials, with unforeseen and sometimes disastrous side-effects

1975

Phosphate supplementation and calcitriol co-therapy used to enhance blood phosphate

1977

Mice with the hyp mutation identified which appear to have similar symptoms to those in human XLH

1989

Professional querying of efficacy of therapy in XLH

1980-1990

Consensus holds that therapy with phosphate and calcitriol has some benefits for some patients, particularly in straightening of lower limbs, although final height may not be enhanced, and some patients may not respond

1995

Identification of the genetic defect responsible for XLH (PEX, later termed PHEX) by the Hyp consortium

1996

Vitamin D 24,25 D3 identified as potentially useful therapy

July 1996

Vitamin D Metabolism and Rickets web pages created. Colin Steeksma and Larry Winger collaborate to form an internet-based support group.

Nov 1996

St. John's University, New York agrees to host F-HYPDRR mailing list

Jun 1997

Theory advanced regarding PHEX chemical biofeedback and a substance called phosphatonin

Dec 1998

F-HYPDRR mailing list reaches 100 members (2 years after list inception)

Apr 1999

French study concludes disorder severity does not correlate with specific XLH mutation.

Aug 1999

PHEX mutational database announced

Sep 1999

Bone marrow transplantation success announced in hyp mice

Jul 2000

Announcement of MEPE compound (identified in rare bone tumors) as prime phosphatonin candidate

Oct 2000

F-HYPDRR mailing list reaches 200th member (not quite 4 years after inception)

Sept 2000

The gene which is affected in Autosomal Dominant Hypophosphatemic Rickets is identified (FGF23)

Mar 2001

PHEX is expressed in an active soluble form

Mar-Sep 2001

A variety of possible contenders for the phosphatonin hormone are considered

Oct 2001

Yves Sabbagh, of Montreal, research member of F-HYPDRR, receives the Young Investigator of the Year award from the American Society for Bone & Mineral Research

Nov 29, 2004 Joan Reed signs the Certificate of Incorporation for The XLH Network Inc. (exactly 8 years after F-HYPDRR list inception)
March 2, 2005 Official incorporation date in New York for the XLH Network Inc.
March 18, 2005 The first board of XLH Network Inc is formed. Joan Reed named President.
April 24, 2005 F-HYPDRR mailing list reaches 500 members (8.5 years after list inception)

References

X-linked hypophosphatemic rickets: a probable upper Paleolithic case. 1995. V. Formicola. Am. J. Phys. Anthropol. 98:403-9.

 

A more extensive timeline is available here.


Last modified Aug 8, 2007

XLH is also known as X-Linked Hypophosphatemia (sometimes also spelled as hypophosphataemia), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets (VDRR) Rickets and even Genetic Rickets. Its notable characteristics are bowed legs, short stature, poor teeth formation causing spontaneous dental abscesses, and low blood phosphorus levels.

© 2002-2007, The XLH Network Inc.
The authors of this web site are not medical professionals, and this information does not substitute for medical care. Information on these pages is based on biomedical research, published in peer-reviewed journals, and international research conferences. Additionally, in some cases anecdotal information is provided by subscribers of the F-HYPDRR group, a mailing list for The XLH Network Inc. A complete web-site bibliography is available. Please read our full disclaimer.